Incidental Mutation 'R7130:Morc2b'
| ID |
552609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc2b
|
| Ensembl Gene |
ENSMUSG00000048602 |
| Gene Name |
microrchidia 2B |
| Synonyms |
4932411A10Rik |
| MMRRC Submission |
045215-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R7130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33355262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 837
(S837C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
| AlphaFold |
Q8C5W4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053896
AA Change: S837C
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: S837C
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.78e0 |
SMART |
|
coiled coil region
|
285 |
321 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
495 |
541 |
1.9e-16 |
PFAM |
|
coiled coil region
|
555 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1001 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131954
AA Change: S837C
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: S837C
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.78e0 |
SMART |
|
coiled coil region
|
285 |
321 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
494 |
543 |
7.7e-18 |
PFAM |
|
coiled coil region
|
555 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1001 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,418,021 (GRCm39) |
T735I |
possibly damaging |
Het |
| Abtb3 |
A |
C |
10: 85,223,419 (GRCm39) |
D76A |
unknown |
Het |
| Adcy10 |
T |
A |
1: 165,331,616 (GRCm39) |
V83E |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,495,110 (GRCm39) |
Y701H |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,214,538 (GRCm39) |
H518Y |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,761,047 (GRCm39) |
V966E |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,030,805 (GRCm39) |
|
probably null |
Het |
| Bpifb9b |
T |
A |
2: 154,153,592 (GRCm39) |
N219K |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,355,761 (GRCm39) |
T490A |
unknown |
Het |
| Cyb5r1 |
T |
G |
1: 134,335,759 (GRCm39) |
|
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,573,523 (GRCm39) |
Q2945* |
probably null |
Het |
| Eif5b |
A |
G |
1: 38,080,857 (GRCm39) |
T733A |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,200,223 (GRCm39) |
D657V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,936 (GRCm39) |
F2863I |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,100,350 (GRCm39) |
I435L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,573,585 (GRCm39) |
G253S |
unknown |
Het |
| Gdi2 |
T |
C |
13: 3,598,891 (GRCm39) |
V25A |
probably benign |
Het |
| Gm28729 |
T |
G |
9: 96,401,457 (GRCm39) |
R110S |
probably benign |
Het |
| Gucd1 |
A |
G |
10: 75,347,951 (GRCm39) |
L28P |
possibly damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,265,450 (GRCm39) |
S1176N |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,105,575 (GRCm39) |
T606A |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,810 (GRCm39) |
D137G |
probably benign |
Het |
| Klkb1 |
T |
A |
8: 45,728,575 (GRCm39) |
T395S |
probably benign |
Het |
| Mrpl9 |
A |
G |
3: 94,354,597 (GRCm39) |
R204G |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,156,018 (GRCm39) |
E64G |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,173,638 (GRCm39) |
E521G |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,812,081 (GRCm39) |
S54P |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,250,837 (GRCm39) |
M37V |
probably benign |
Het |
| Or2ag17 |
A |
G |
7: 106,389,389 (GRCm39) |
L273P |
probably benign |
Het |
| Or2w1 |
T |
G |
13: 21,317,416 (GRCm39) |
V157G |
probably benign |
Het |
| Or4b1b |
T |
C |
2: 90,112,266 (GRCm39) |
I218V |
probably benign |
Het |
| Or9s27 |
C |
T |
1: 92,516,634 (GRCm39) |
A194V |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 108,940,296 (GRCm39) |
R213C |
probably benign |
Het |
| Pard3 |
C |
A |
8: 128,142,164 (GRCm39) |
R907S |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,559 (GRCm39) |
S630G |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,618,498 (GRCm39) |
C96Y |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,729,356 (GRCm39) |
T2738I |
unknown |
Het |
| Pcnx2 |
G |
A |
8: 126,480,323 (GRCm39) |
R1995* |
probably null |
Het |
| Ppm1a |
T |
A |
12: 72,831,007 (GRCm39) |
N177K |
probably benign |
Het |
| Rfx6 |
A |
T |
10: 51,554,476 (GRCm39) |
K106* |
probably null |
Het |
| Rhoh |
T |
C |
5: 66,050,207 (GRCm39) |
V159A |
probably damaging |
Het |
| Rreb1 |
T |
C |
13: 38,083,724 (GRCm39) |
V129A |
probably damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,702,167 (GRCm39) |
A424D |
probably damaging |
Het |
| Sdf2 |
T |
C |
11: 78,136,823 (GRCm39) |
M1T |
probably null |
Het |
| Sftpb |
T |
A |
6: 72,282,808 (GRCm39) |
F94I |
possibly damaging |
Het |
| Slc38a2 |
G |
T |
15: 96,589,263 (GRCm39) |
H410Q |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,960,384 (GRCm39) |
V68E |
probably damaging |
Het |
| Spopfm3 |
T |
C |
3: 94,105,834 (GRCm39) |
W51R |
probably damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,297,684 (GRCm39) |
V162A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tango6 |
A |
G |
8: 107,533,733 (GRCm39) |
D953G |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,029,693 (GRCm39) |
S1009P |
probably damaging |
Het |
| Thap3 |
T |
C |
4: 152,073,373 (GRCm39) |
Y14C |
possibly damaging |
Het |
| Tmem143 |
T |
A |
7: 45,558,901 (GRCm39) |
M281K |
possibly damaging |
Het |
| Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,822,965 (GRCm39) |
I516T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,721,013 (GRCm39) |
I6804V |
unknown |
Het |
| Ubtfl1 |
C |
A |
9: 18,321,143 (GRCm39) |
P224T |
probably damaging |
Het |
| Umad1 |
G |
T |
6: 8,427,185 (GRCm39) |
C120F |
probably null |
Het |
| Unc93a2 |
T |
C |
17: 7,637,824 (GRCm39) |
T304A |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,881,101 (GRCm39) |
V275D |
|
Het |
| Vmn2r79 |
T |
C |
7: 86,651,474 (GRCm39) |
V291A |
probably damaging |
Het |
|
| Other mutations in Morc2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Morc2b
|
APN |
17 |
33,356,293 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01369:Morc2b
|
APN |
17 |
33,357,139 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01533:Morc2b
|
APN |
17 |
33,354,695 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02003:Morc2b
|
APN |
17 |
33,357,298 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02028:Morc2b
|
APN |
17 |
33,356,387 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02152:Morc2b
|
APN |
17 |
33,356,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Morc2b
|
APN |
17 |
33,356,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Morc2b
|
APN |
17 |
33,356,497 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03293:Morc2b
|
APN |
17 |
33,357,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
twinkle
|
UTSW |
17 |
33,354,906 (GRCm39) |
nonsense |
probably null |
|
|
PIT4283001:Morc2b
|
UTSW |
17 |
33,355,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Morc2b
|
UTSW |
17 |
33,357,733 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0116:Morc2b
|
UTSW |
17 |
33,356,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Morc2b
|
UTSW |
17 |
33,355,956 (GRCm39) |
nonsense |
probably null |
|
|
R0533:Morc2b
|
UTSW |
17 |
33,354,906 (GRCm39) |
nonsense |
probably null |
|
|
R0556:Morc2b
|
UTSW |
17 |
33,356,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0629:Morc2b
|
UTSW |
17 |
33,354,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0635:Morc2b
|
UTSW |
17 |
33,356,661 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0840:Morc2b
|
UTSW |
17 |
33,355,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1205:Morc2b
|
UTSW |
17 |
33,354,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Morc2b
|
UTSW |
17 |
33,355,948 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1676:Morc2b
|
UTSW |
17 |
33,354,955 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1892:Morc2b
|
UTSW |
17 |
33,354,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Morc2b
|
UTSW |
17 |
33,356,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Morc2b
|
UTSW |
17 |
33,356,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Morc2b
|
UTSW |
17 |
33,356,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:Morc2b
|
UTSW |
17 |
33,355,734 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3609:Morc2b
|
UTSW |
17 |
33,355,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3610:Morc2b
|
UTSW |
17 |
33,355,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Morc2b
|
UTSW |
17 |
33,356,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4156:Morc2b
|
UTSW |
17 |
33,357,401 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4243:Morc2b
|
UTSW |
17 |
33,355,375 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Morc2b
|
UTSW |
17 |
33,357,712 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4911:Morc2b
|
UTSW |
17 |
33,356,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Morc2b
|
UTSW |
17 |
33,355,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5264:Morc2b
|
UTSW |
17 |
33,357,353 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5326:Morc2b
|
UTSW |
17 |
33,355,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5455:Morc2b
|
UTSW |
17 |
33,357,584 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5933:Morc2b
|
UTSW |
17 |
33,357,583 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5973:Morc2b
|
UTSW |
17 |
33,356,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6026:Morc2b
|
UTSW |
17 |
33,356,957 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6113:Morc2b
|
UTSW |
17 |
33,357,042 (GRCm39) |
nonsense |
probably null |
|
|
R6393:Morc2b
|
UTSW |
17 |
33,356,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7066:Morc2b
|
UTSW |
17 |
33,355,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7117:Morc2b
|
UTSW |
17 |
33,356,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7120:Morc2b
|
UTSW |
17 |
33,354,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Morc2b
|
UTSW |
17 |
33,356,833 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7516:Morc2b
|
UTSW |
17 |
33,356,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7664:Morc2b
|
UTSW |
17 |
33,355,376 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7754:Morc2b
|
UTSW |
17 |
33,356,218 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7756:Morc2b
|
UTSW |
17 |
33,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Morc2b
|
UTSW |
17 |
33,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Morc2b
|
UTSW |
17 |
33,357,397 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7957:Morc2b
|
UTSW |
17 |
33,354,747 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7965:Morc2b
|
UTSW |
17 |
33,354,746 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8164:Morc2b
|
UTSW |
17 |
33,357,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8283:Morc2b
|
UTSW |
17 |
33,355,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8338:Morc2b
|
UTSW |
17 |
33,355,387 (GRCm39) |
missense |
probably benign |
|
|
R8349:Morc2b
|
UTSW |
17 |
33,355,775 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8352:Morc2b
|
UTSW |
17 |
33,356,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Morc2b
|
UTSW |
17 |
33,357,295 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8364:Morc2b
|
UTSW |
17 |
33,357,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8449:Morc2b
|
UTSW |
17 |
33,355,775 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8452:Morc2b
|
UTSW |
17 |
33,356,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8476:Morc2b
|
UTSW |
17 |
33,354,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8844:Morc2b
|
UTSW |
17 |
33,354,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Morc2b
|
UTSW |
17 |
33,354,997 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9571:Morc2b
|
UTSW |
17 |
33,355,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Morc2b
|
UTSW |
17 |
33,355,060 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1177:Morc2b
|
UTSW |
17 |
33,356,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGTTCCAGAGAATTTGGAC -3'
(R):5'- CCAGTTGACCTCAAGACAGCTC -3'
Sequencing Primer
(F):5'- CCAAGAGGTCAATGGTCTTGTG -3'
(R):5'- GTTGACCTCAAGACAGCTCAGAAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation